A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598651



Internal ID6985787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171728449..171729677hg38UCSC Ensembl
Innerchr3:171728453..171729673hg38UCSC Ensembl
Outerchr3:171728445..171729681hg38UCSC Ensembl
chr3:171446239..171447467hg19UCSC Ensembl
Innerchr3:171446243..171447463hg19UCSC Ensembl
Outerchr3:171446235..171447471hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11225683, essv11225682
SamplesHG02722, HG03028
Known GenesPLD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598651
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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